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Doctor insights on: Tay Sachs Disease Genetics Birth Defects

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What type of genetic disorders are tay sachs disease and canavans examples of?

What type of genetic disorders are tay sachs disease and canavans examples of?

Genetic diseases: Tay sachs is an autosomal recessive genetic disease. It is a disease of the nervous system and is a member of the sphingolipidoses. Canavan disease is different autosomal recessive genetic disease of the nervous system and is a member of the leukodystrophies. Eastern european (ashkenazi) jews have a higher carrier rate for both of these diseases than the average population.Seek genetic counsiling. ...Read more

Genetic (Definition)

From a medical standpoint, "genetic" refers to the potential heritability of various medical conditions. While some conditions are inevitable (at some point in one's life) as a consequence of simple genetic heritability (eg huntington's disease), a large number of medical conditions (including all behaviorial health disorders) are the expressed final pathway of a ...Read more


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How can having tay-sachs disease affect people's life?

Misery: Affected patients appear normal at birth & progress normally up to about 6 mo when they plateau & start their decline.They gradually deteriorate & die of complications of their disease by the age of about 4 yrs. ...Read more

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Is it uncommon for tay sachs disease to start to manifest later in life?

Is it uncommon for tay sachs disease to start to manifest later in life?

Very Rare: Tay sachs is a metabolic defect that begins to cause problems immediately after birth. Neurologic abnormalities are identified during the first year of life and these children all die in the first years of life. There may be another neurologic disorder that has some of the clinical features of tay sachs that shows up later. ...Read more

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Can you tell me are people with tay-sachs disease sterile?

Can you tell me are people with tay-sachs disease sterile?

Confusing question: These affected patients never live long enough to become fertile.The gene survives because it passes quietly in the unaffected carriers.Ts only emerges when 2 carrier parents give birth to an effected infant. ...Read more

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What are the symptoms of tay sachs disease? What are complications with treatment?

See below.: Here is a website that can answer your questions about Tay Sachs Disease. Unfortunately, there is currently no treatment. http://ntsad.org/ ...Read more

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Can a child get tay-sachs disease from parents that don't have the disease?

That's how it happns: Tay-sachs is a genetic disorder that requires two defective genes for expression.During conception, one gene is passed from two unaffected carrier parents & baby develops the disease from having two faulty genes in each cell.Affected patients do not survive to pass it on. ...Read more

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How long can you live with Tay-Sachs disease?

Depends on age: This is a rare genetic condition that has several different presentations. Infants who begin with symptoms early in life often do have a shortened lifespan. Adult onset is not considered as lethal. http://ghr.nlm.nih.gov/condition/tay-sachs-disease http://taysachsdisease16.blogspot.com/2011/11/what-is-life-expectancy-of-someone-with.html ...Read more

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Which chromosome does tay-sachs disease change?

Which chromosome does tay-sachs disease change?

15: Tay sachs is an autosomal recessive disorder affecting chromosome 15 in the "hexa" gene. ...Read more

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Dr. Daniel Perl
36 doctors shared insights

Tay Sachs Disease (Definition)

.."a baby with tay-sachs disease is born without an important enzyme, hexosaminidase a (hex a). So, as fatty proteins build up in the brain, they hurt the baby's sight, hearing, movement, and mental development." it is ...Read more


Dr. Nikolaos Zacharias
467 doctors shared insights

Birth Defects (Definition)

Birth defects is a term for structural or functional abnormalities that a baby is be born with. These defects can be the result of genetic mutations or external insults to the developing fetus, such ...Read more